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research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

15 citations , August 2022 in “The Application of Clinical Genetics”

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

7 citations , January 2018 in “Neurodegenerative Diseases”

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening

3 citations , April 2012 in “Journal of the American Academy of Dermatology”

Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.

research An unusual presentation of X-linked adrenoleukodystrophy

2 citations , November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports”

This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.